3β-Hydroxy-δ5-C27-steroid dehydrogenase deficiency: Diagnosis and treatment

Journal of Paediatrics and Child Health

Volumn 37, Issue 5, 2001, Pages 516-519

  Yamato, Y ^a   Kimura, A ^a   Murai, T ^b   Yoshimura, T ^b   Kurosawa, T ^b   Terazawa, S ^c   Takao, A ^d   Maeda, K ^a   Yamashita, Y ^a   Kato, H ^a  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b HEALTH SCIENCES UNIVERSITY OF HOKKAIDO   (Japan)

^c Division of Pediatrics   (Japan)

^d Gifu Municipal Hospital   (Japan)

Author keywords

3 hydroxy 5 C27 steroid dehydrogenase isomerase deficiency; Acidic pathway; Bile acid therapy; Chenodeoxycholic acid; Ursodeoxycholic acid

Indexed keywords

3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; ALPHA TOCOPHEROL; BILE ACID; CHENODEOXYCHOLIC ACID; PREDNISOLONE; RETINOL; URSODEOXYCHOLIC ACID; VITAMIN K GROUP; DELTA(5) 3 BETA HYDROXYSTEROID DEHYDROGENASE; DELTA(5)-3 BETA-HYDROXYSTEROID DEHYDROGENASE;

ARTICLE; BILE ACID SYNTHESIS; CASE REPORT; CHOLESTASIS; CONTROLLED STUDY; GAS CHROMATOGRAPHY; HUMAN; INFANT; LIVER DYSFUNCTION; MALE; MASS SPECTROMETRY; PRIORITY JOURNAL; URINE; BIOSYNTHESIS; ENZYMOLOGY; INTRAHEPATIC CHOLESTASIS; TREATMENT OUTCOME;

3-HYDROXYSTEROID DEHYDROGENASES; BILE ACIDS AND SALTS; CHOLESTASIS, INTRAHEPATIC; HUMANS; INFANT; MALE; TREATMENT OUTCOME;

EID: 17944374475     PISSN: 10344810     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1440-1754.2001.00751.x     Document Type: Article

References (10)

1. 27-steroid dehydrogenase/isomerase deficiency presenting with typical neonatal hepatitis syndrome: The first Japanese case
2. Perinatal bile acid metabolism analysis of urinary bile acids in pregnant women and newborns
3. Bile acid-induced liver toxicity relation to the hydrophobic-hydrophilic balance of bile acids
4. Effect of ursodeoxycholic acid on bile acid metabolism in primary biliary cirrhosis
5. Effect of ursodeoxycholic acid and chenodeoxycholic acid on cholesterol and bile acid metabolism
6. Corticosteroid therapy in biliary atresia
7. Familial giant cell hepatitis associated with synthesis of 3β,7α-dihydroxy- and 3β,7α,12α-trihydroxy-5-cholenoic acids
8. Bile acid biosynthesis: Metabolism of 3β-hydroxy-5-cholenoic acid to chenodeoxycholic acid
9. Identification of a new inborn error in bile acid synthesis: Mutation of the oxysterol 7α-hydroxylation gene causes neonatal liver disease
10. 27-steroid dehydrogenase deficiency: Effects of chenodeoxycholic acid treatment